Septo-Optic Dysplasia and Pituitary Dwarfism

Hoyt, William F.; Kaplan, Selna L.; Grumbach, Melvin M.; Glaser, Johanna

doi:10.1016/s0140-6736(70)91717-4

Cited by 242 publications

(95 citation statements)

References 5 publications

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“…The patient presented with schizencephaly and visual symptoms, which are characteristics of SOD type I, but she also presented white matter hypoplasia (diffuse thinning of the corpus callosum), ventricular dilatation and complete absence of the septum pellucidum, which are described as SOD type II findings. A focal narrowing of the corpus callosum, whose location is correlated with the cleft, may be found in patients with schizencephaly 4,6 , but diffuse callosal thinning, as observed in this case, was only seen in patients without schizencephaly 4 .…”

Section: Discussionsupporting

confidence: 57%

“…Septo-optic dysplasia refers to a heterogeneous group of disorders that variably include optic nerve and/or optic chiasma hypoplasia and absence or dysgenesis of the septum pellucidum [3][4][5][6] . The clinical features may include variably partial pituitary insufficiency (from panhypopituitarism to isolated GH, ACTH or ADH insufficiency), various degrees of psychomotor retardation, mild to severe visual impairment, thermoregulatory disturbances, conjugated hyperbilirrubinemia and seizures [3][4][5][6][7][8] .…”

Section: Discussionmentioning

confidence: 99%

“…The clinical features may include variably partial pituitary insufficiency (from panhypopituitarism to isolated GH, ACTH or ADH insufficiency), various degrees of psychomotor retardation, mild to severe visual impairment, thermoregulatory disturbances, conjugated hyperbilirrubinemia and seizures [3][4][5][6][7][8] . Hence, the clinical presentation may be mild or extremely severe.…”

Section: Discussionmentioning

confidence: 99%

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Septo-optic dysplasia plus: case report

Gasparetto

Warszawiak

Neto

et al. 2003

Arq. Neuro-Psiquiatr.

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-Septo-optic dysplasia (SOD) is a syndrome composed by optic nerve and septum pellucidum dysgenesis. It has been classified into two subsets according to the embryogenesis and the neuropathological findings. Basically, the difference between these two groups is the presence or not of schizencephaly. The term SOD-Plus was recently proposed to describe SOD associated with cortical dysplasia. We report a 6-month-old female patient who presented absent visual fixation since 4 months of age and delayed psychomotor development. Neurological examination demonstrated spastic left hemiparesis and ophtalmological evaluation revealed bilateral optic disc hypoplasia. The head computed tomography (CT) scan showed absence of the septum pellucidum, ventricular asymmetry and schizencephaly. The magnetic resonance imaging (MRI) showed complete absence of the septum pellucidum associated to optic nerves and chiasma atrophy, schizencephaly and cortical dysplasia. The patient underwent an evoked potential examination with flash stimulation, which revealed bilateral absence of cortical evoked potential. She was referred to visual stimulation and physiotherapy. We emphasize the neuroimaging of this syndrome and stress the importance of the clinical investigation for patients with septum pellucidum dysgenesis on MRI or CT scans.KEY WORDS: magnetic resonance imaging, computed tomography, septo-optic dysplasia, septum pellucidum. Displasia septo-óptica plus: relato de casoRESUMO -A displasia septo-óptica (DSO) é síndrome composta por disgenesia do nervo óptico e do septo pelúcido, que pode ser dividida em dois subgrupos de acordo com sua embriogênese e achados neuropatológicos. A diferença básica entre estes dois grupos é a presença ou não de esquizencefalia. O termo DSO-plus foi proposto recentemente para descrever DSO associada a displasia cortical. Apresentamos uma paciente de 6 meses de idade com ausência de fixação visual desde os 4 meses e atraso do desenvolvimento psicomotor. O exame neurológico demonstrou hemiparesia espástica esquerda e a avaliação oftalmológica revelou hipoplasia do disco óptico bilateralmente. A tomografia computadorizada (TC) de crânio demonstrou ausência de septo pelúcido, assimetria ventricular e esquizencefalia. A ressonância magnética (RM) revelou ausência completa de septo pelúcido associada a atrofia dos nervos e quiasma ópticos, esquizencefalia e displasia cortical. A paciente foi submetida a exame de potencial evocado com estimulação por flashes que revelou ausência bilateral de potencial evocado cortical. Terapia paliativa foi iniciada com estimulação visual e fisioterapia. Os autores enfatizam os achados de neuro-imagem desta síndrome e a importância da investigação clínica e por métodos de imagem (TC e RM) em pacientes com disgenesia do septo pelúcido. PALAVRAS-CHAVE: ressonância magnética, tomografia computadorizada, displasia septo-óptica, septo pelúcido.

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Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Septo-optic dysplasia plus: case report

Gasparetto

Warszawiak

Neto

et al. 2003

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…11,12 Subsequently, an association with pituitary dysfunction was described. 13 Classically the diagnosis of SOD can be made clinically when two or more features of the classical triad (see above) are present. Morishima and Aranoff 14 cite that B30% of SOD cases have complete manifestations, 62% have the complication of hypopituitarism and 60% have an absent septum pellucidum.…”

Section: Introductionmentioning

confidence: 99%